Huntington's Disease
Achondroplasia
XYY
Triple X Syndrome
Tay Sachs Disease
Hemophilia
Sickle-Cell Anemia
Albinism
Phenylketonuria (PKU)
Down syndrome
Turner Syndrome (XO)
Klinefelter syndrome (XXY)
Duchenne Muscular Dystrophy
Cystic Fibrosis
The most common form of disproportionate short stature. The individual has abnormal bone growth resulting in short stature, disproportionately short arms and legs, short fingers, a large head, and specific facial features.
A blood disorder caused by a recessive gene that mostly affects African American; deformed blood cells affect the ability of the blood to transport oxygen.
An X-linked chromosomal disorder caused when an extra Y chromosome is present. There are few symptoms. They may include being taller than average, acne, and an increased risk of learning problems.
A disorder caused by a recessive gene in which children cannot metabolize the amino acid phenylalanine
An X-linked disorder in which the blood doesn’t clot correctly
An X-linked chromosomal disorder caused when all or part of one of the X chromosomes is lost before or soon after conception that affects cognitive functioning and sexual maturation. Infertility and a short stature may be noted.
A fatal neurological disorder caused by a dominant gene; onset occurs in middle adulthood
A genetic disease that affects breathing and digestion due to thick mucus building up in the body, especially the lungs and digestive system
A fatal neurological disorder caused by a recessive gene that primarily afflicts Jews of Eastern European origin.
An X-linked chromosomal disorder caused when an extra X chromosome is present. It may result in being taller than average, learning difficulties, decreased muscle tone, seizures, and kidney problems.
An X-linked disorder that causes weakening of the muscles resulting in an inability to move, wasting away, and possible death.
A condition characterized by a third chromosome on the 21st pair. Affected individuals have some degree of intellectual disability, characteristic facial features, often heart defects, and other health problems.
An X-linked chromosomal disorder caused when an extra X chromosome is present in the cells of a male due to a random event. Can cause some breast development, infertility, and low levels of testosterone.
When the individual lacks melanin and processes little to no pigment in the skin, hair, and eyes. Vision problems can also occur.
